Canonical Allele Identifier: CA2585306858

Gene: BCKDHA

Linked Data

• gnomAD v4: 19-41411067-T-TAAG

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.41411067_41411068insAAG , CM000681.2:g.41411067_41411068insAAG	GRCh38
NC_000019.9:g.41916972_41916973insAAG , CM000681.1:g.41916972_41916973insAAG	GRCh37
NC_000019.8:g.46608812_46608813insAAG	NCBI36
NG_013004.1:g.18279_18280insAAG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000269980.7:c.375+58_375+59insAAG MANE Select	ENSP00000269980.2:n.375+58_375+59insAAG
ENST00000269980.6:c.375+58_375+59insAAG	ENSP00000269980.2:n.375+58_375+59insAAG
ENST00000457836.6:c.309+58_309+59insAAG	ENSP00000416000.2:n.309+58_309+59insAAG
ENST00000538423.5:n.501+58_501+59insAAG
ENST00000540732.3:c.477+58_477+59insAAG	ENSP00000443246.1:n.477+58_477+59insAAG
ENST00000541315.1:c.182+58_182+59insAAG
ENST00000542943.5:c.288+251_288+252insAAG	ENSP00000440345.1:n.288+251_288+252insAAG
ENST00000595085.5:c.375+58_375+59insAAG	ENSP00000471150.2:n.375+58_375+59insAAG
NM_000709.3:c.375+58_375+59insAAG	NP_000700.1:n.375+58_375+59insAAG
NM_001164783.1:c.375+58_375+59insAAG	NP_001158255.1:n.375+58_375+59insAAG
NM_000709.4:c.375+58_375+59insAAG MANE Select	NP_000700.1:n.375+58_375+59insAAG
NM_001164783.2:c.375+58_375+59insAAG	NP_001158255.1:n.375+58_375+59insAAG